UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test
Introduction to the Test
The UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the UROC1 gene, which are responsible for urocanase deficiency. This deficiency can lead to various neurological disorders, making early detection crucial for effective management and treatment. By utilizing Next Generation Sequencing (NGS) technology, this test provides comprehensive insights into an individual’s genetic makeup, enabling healthcare providers to tailor treatment strategies accordingly.
What the Test Measures
This genetic test specifically measures the presence of mutations in the UROC1 gene, which encodes the enzyme urocanase. Urocanase plays a vital role in the metabolism of histidine, and its deficiency can lead to a buildup of toxic metabolites that affect neurological function.
Who Should Consider This Test?
Individuals who may benefit from the UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test include:
- Those with a family history of neurological disorders.
- Patients exhibiting symptoms such as seizures, developmental delays, or other cognitive impairments.
- Individuals seeking genetic counseling to understand their risk factors for urocanase deficiency.
Benefits of Taking the Test
Taking the UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test offers several benefits:
- Early diagnosis of potential neurological disorders.
- Informed decision-making regarding treatment options.
- Personalized management plans based on genetic predisposition.
- Access to genetic counseling and support for affected families.
Understanding Your Results
Results from the UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test will be interpreted by qualified genetic counselors and neurologists. They will provide guidance on the implications of the results, potential treatment options, and any necessary follow-up actions. It is essential to understand that a positive result indicates a genetic predisposition but does not guarantee the development of symptoms.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait to take control of your health. Book the UROC1 Gene Urocanase Deficiency NGS Genetic DNA Test today! For more information or to schedule your test, please call or WhatsApp us at +2348077798758.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: Clinical history of the patient who is going for the test and a genetic counseling session to draw a pedigree chart of family members affected with UROC1 Gene Urocanase deficiency.
Specialty: Neurology | Department: Genetics | Method: NGS Technology | Disease Type: Neurological Disorders
